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2.
Int. j. morphol ; 38(3): 793-798, June 2020. graf
Artigo em Inglês | LILACS (Américas) | ID: biblio-1098321

RESUMO

Sirenomelia or mermaid syndrome is an extremely rare congenital lethal malformation with a frequency between 1.5 and 4.2 per 1 000 000 pregnancies.The association of sirenomelia with the VACTERL association is very rare, with twenty cases reported in the literature and only two cases with VACTERL-H. We present two cases of sirenomelia, type I and type II associated with VACTERL-H and VACTERL syndromes and we review the literature. First time pregnancy women aged 15 and 40 years, without harmful habits and diseases, where between 25-27 gestational week (GW) the prenatal study identifies malformative fetus and the pregnancy is interrupted by medical evidence. The fetopathological examination in the first case identified sirenomelia type I associated with myelomeningocele, hydrocephalus, anal imperforation, single umbilical artery, bilateral renal agenesis, ureteral and bladder agenesis, tracheo-esophageal fistule, agenesis of external genitals, monkey fold of the left palm of the hand - VACTERL-H. In the second case, where genetic testing is normal, sirenomelia type II associated with agenesis of external genitalia, anal imperforation, myelomeningocele, dolichocrania, macroglossia, low set ears, left preauricular skin tag, long philtrum, lung hypoplasia, split cadiac apex, single umbilicalis artery, blind end colon, hepatomegaly, accessory spleen, polycystic horseshoe kidney, uterine and vaginal agenesis, presence of two ovaries and duodenal stenosis - VACTERL association. This two cases, lead us to believe that sirenomelia and the VACTERL association are probably different manifestations of a pathogenetic process leading to disorders of blastogenesis at different levels during embryonic development.


La sirenomelia es una malformación congénita y excepcionalmente rara, con una frecuencia entre 1,5 y 4,2 en un millón de embarazos. La combinación de la sirenomelia con el síndrome de VACTERL es igualmente rara. La literatura especializada informa sobre la existencia de una veintena de casos solamente; en lo que respecta a su asociación con el síndrome de VACTERL-H se conocen solo dos casos. Luego de realizar una revisión de la literatura presentamos dos casos de sirenomelia asociada con los síndromes de VACTERL-H y de VACTERL En el estudio se analizaron los primeros embarazos de dos mujeres, edad de 15 y de 40 años, respectivamente, ambas mujeres completamente sanas y sin hábitos viciosos. Entre la vigésima quinta y la vigésima séptima semana gestacional (SG) del embarazo ambas mujeres, el análisis prenatal comprueba la existencia de malformación del feto debido a lo cual los embarazos fueron interrumpidos por prescripción médica. El análisis fetopatológico del primer caso comprueba la existencia de sirenomelia de tipo I asociada con mielomeningocele, hidrocefalia, atresia anal, arteria umbilical única, agenesia bilateral de los riñones y de los ureteres que transportan la orina desde los riñones hasta la vejiga, fístula traqueoesofágica, agenesia de los órganos genitales externos, línea simiesca en la palma de la mano izquierda - VACTERLH. En el segundo caso, en que el análisis genético ha resultado normal, se observó la presencia de sirenomelia de tipo II asociada con agenesia de los órganos genitales externos, atresia anal, mielomeningocele, dolicocrania, macroglosia, orejas bajas, filtrum alargado, hipoplasia pulmonar, ápice cardíaco escindido, arteria umbilical única, colon terminado en ciego, bazo accesorio, poliquistosis renal, riñón en herradura, agenesia vaginal y de útero, presencia de dos ovarios y estenosis duodenal - VACTERL asociación. Los dos casos investigados permiten llegar a la conclusión de que la sirenomelia y su combinación con el síndrome de VACTERL probablemente sean manifestaciones diferentes de un proceso patogenético que conlleva la alteración de la blastogénesis en distintos niveles durante el proceso del desarrollo embrionario.


Assuntos
Humanos , Feminino , Gravidez , Adolescente , Adulto , Anormalidades Múltiplas , Ectromelia/complicações , Ectromelia/diagnóstico , Doenças Fetais/diagnóstico , Canal Anal/anormalidades , Síndrome , Traqueia/anormalidades , Evolução Fatal , Esôfago/anormalidades , Rim/anormalidades
3.
Arch. argent. pediatr ; 118(1): 52-56, 2020-02-00. tab, ilus
Artigo em Inglês, Espanhol | LILACS (Américas), BINACIS | ID: biblio-1095588

RESUMO

El amplio espectro de aberraciones cromosómicas observable en los trastornos del neurodesarrollo no siempre puede ser caracterizado por análisis cromosómico. El objetivo del trabajo fue determinar la etiología genética de estos trastornos en pacientes con afecciones neurológicas congénitas y sospecha clínica de un síndrome genético, aplicando un algoritmo de estudio clínico-molecular. En 71 de 111 niños analizados, se hallaron aberraciones submicroscópicas asociadas a síndromes de microdeleción-microduplicación: DiGeorge (22 casos), Prader-Willi (26 casos), Angelman (2 casos), Williams-Beuren (17 casos), Smith-Magenis (1 caso), Miller-Dieker (1 caso) y síndrome cri du chat (1 caso). Adicionalmente, se detectó una inserción desbalanceada de novo de la región 17p12p11.2, en el punto 5p13.1, en un niño de tres años. La utilización del método clínico unido a técnicas moleculares, como hibridación fluorescente in situ, ha permitido, en la mayoría de los casos, el diagnóstico certero de pacientes y/o familias con trastornos del neurodesarrollo.


The wide range of chromosome aberrations seen in neurodevelopmental disorders may not always be characterized by means of a chromosome analysis. The objective of this study was to determine the genetic etiology of these disorders in patients with congenital neurological conditions and clinical suspicion of a genetic disorder using a clinical and molecular testing algorithm. Among 111 studied children, 71 showed submicroscopic chromosome aberrations associated with microdeletion/microduplication syndromes: DiGeorge (22 cases), Prader-Willi (26 cases), Angelman (2 cases), Williams-Beuren (17 cases), Smith-Magenis (1 case), Miller-Dieker (1 case), and cri du chat syndrome (1 case). Additionally, a de novo trisomy 17p12p11.2 due to an unbalanced insertion into 5p13.1 was identified in a 3-year-old child. In most cases, the use of a clinical method together with molecular techniques, such as fluorescence in situ hybridization, has allowed to make an accurate diagnosis in patients and/or families with neurodevelopmental disorders.


Assuntos
Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Criança , Transtornos do Neurodesenvolvimento/diagnóstico , Doenças Genéticas Inatas/diagnóstico , Síndrome , Algoritmos , Deficiências do Desenvolvimento , Estudos Retrospectivos , Hibridização in Situ Fluorescente , Procedimentos Clínicos , Transtornos do Neurodesenvolvimento/etiologia , Aconselhamento Genético
7.
Annals of Health Research; 6(2), Journal Article, 2020
em Inglês | AIM (África) | ID: afr-201844

RESUMO

In late December 2019, there was an outbreak of a new Coronavirus infection in Wuhan, Hubei Province, China, which caused acute respiratory syndrome of unknown aetiology. The World Health Organization (WHO) named the virus Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV2) or COVID-19 and declared the infection a pandemic on the 11th of March 2020. The first case of COVID-19 in Nigeria was reported on the 27th of February 2020 and since then the numbers of confirmed cases has been on the increase, at least in Nigeria. With no vaccine or cure in sight, only public health measures that include personal protective measures, physical distancing, environmental and travel-related measures have been recommended to mitigate and contain the spread of the disease. There is need to make testing for COVID-19 widely available so that the true burden of the infection will be described. This step should assist policy makers in making evidence-based decisions in the prevention and control of the disease.


Assuntos
Coronavirus , Infecções/epidemiologia , Infecções/transmissão , Síndrome , Nigéria
8.
Artigo em Inglês | AIM (África) | ID: afr-201857

RESUMO

The novel Coronavirus, named SARS-CoV-2, responsible of the COVID-19 is now causing a pandemic. Detecting all possible cases and eliminating differential diagnoses in front of any acute respiratory distress has become a daily challenge for doctors around the world. We believe that non-COVID patients are the hidden victims of the actual health problematic. We report from this manuscript the case of a patient with fat embolism syndrome that has been suspected as COVID-19.


Assuntos
Infecções por Coronavirus , Embolia , Síndrome , Adulto , Marrocos
9.
Nigerian Journal of Paediatrics ; 47(3), p.288-295, fig., tab., 2020
Artigo em Inglês | AIM (África) | ID: afr-201866

RESUMO

Background: Since the onset of the Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic also known as Coronavirus disease 2019 (COVID-19) beginning in Wuhan, China in December 2019 and spreading to Nigeria in February 2020 (as well as the rest of the world), there have been enormous resultant impact on health, social, emotional and economic aspects lives and services. The disease as well as its mitigation measures have negatively affected other aspects of lives and health services. This paper aims to assess the preliminary effects on immunization services, blow the whistle and suggest measures to limit these effects. Methods: Data was obtained by interviews and use of a structured proforma from Immunization Field Experts/Consultants working with national and international agencies in four states, heads of immunization units, officers in charge of immunization centres and facility immunization records from seven sites across Nigeria. Results: There were disrupted immunization services with total absence of outreach services and campaigns, limited fixed sessions, disease outbreaks, general drop in number of immunized children. These were thought to be due to the lockdown effects, fears, rumours and panic among others. Outright routine vaccines amongst rejections were also reported. Conclusion: Reports suggest that the pandemic and its mitigation measures are affecting immunization services in terms of demand/ access (physical and economic), services and logistics with overall drop in coverage and rise in dropout rates. The effects are still unfolding. It does not appear that health facilities are monitoring and interrogating their data with a view to making specific response action plans. All stakeholders in immunization (Government, non- governmental and professional organizations, the media, traditional / religious institutions) should work to flood the mainstream / social media with positive messages on immunization; monitor immunization progress by ongoing data collection, collation, analysis, interpretation and action; actively counter rumours and anti- vaccine messages and plan for post COVID 19 intensification/ catch- up


Assuntos
Infecções por Coronavirus , Coronavirus , Infecções , Síndrome , Imunização , Criança , Nigéria
10.
Nigerian Journal of Paediatrics ; 47(3), p.264-269, fig., tab., 2020
Artigo em Inglês | AIM (África) | ID: afr-201867

RESUMO

Introduction: Preterm delivery is of considerable concern to clinicians and researchers being a leading cause of infant morbidity and mortality in the industrialized countries and also contributes to substantial complications among survivors. Sub-Saharan Africa, including Nigeria accounts for significant proportion of preterm births, with over million deaths due to complication of prematurity. Objectives: The study aimed to determine the prevalence and associated morbidities of preterm deliveries at the University of Maiduguri Teaching Hospital, Maiduguri, North-Eastern Nigeria. Patients and methods: This is a retrospective review of neonates delivered before 37 completed weeks of gestation and admitted into the Special Care Baby Unit (SCBU) of the University of Maiduguri Teaching Hospital, from 1st January 2008 to 31st December 2015. Results: There were 3435 admissions into the Special Care baby Unit (SCBU) during the 8 year period. Out of these 1129 were preterm babies giving a prevalence of 32.9%. Of the 1129 preterm babies managed in SCBU, 714 case records were retrieved and analyzed giving a retrieval rate of 63%. There were 372 (52.1%) males and 342 (47.9%) females; with the male to female ratio of 1:1.08. There were 17(2.3%) extreme low birth weight (1000-1499 g), 406 (56.9%) low birth weight (1500- 2499 g) babies. The range of admission weights was 700-2500g with mean of 1600±900g. Conclusion: The burden, complications and mortality from preterm newborns remain significant public health challenges to care givers in Nigeria.


Assuntos
Infecções por Coronavirus , Síndrome , Lactente , Doença , Infecções , Hospitais , Ensino , Publicações , Nigéria
11.
Artigo em Inglês | AIM (África) | ID: afr-201877

RESUMO

Background: An ongoing outbreak of pneumonia associated with a novel coronavirus was reported in Wuhan city, China. This new virus was named severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) by the Coronavirus Study Group (CSG) of the International Committee on Taxonomy of Viruses. That disease, caused by the SARS-CoV-2, has been named coronavirus disease 2019 (COVID-19) by the WHO. The outbreak has since spread across the globe, including countries in Africa. Main body: The dominant mode of transmission is from the respiratory tract, via droplets or indirectly via fomites, and to a lesser extent via aerosols. The rapidity with which the infection spread throughout the world was unexpected. The disease has now affected 212 countries, areas, or territories, with more than 2.1 million total confirmed cases and over 144 thousand fatalities as at the time of writing. It, therefore, behooves countries of the world to take firm public health measures for the pandemic is to be contained. Conclusion: Nigeria, with a population of at least 170 million people, is of global interest because a rapid rise in the number of infected people will have serious implications not only for the country but for the whole African continent.


Assuntos
Infecções por Coronavirus , Coronavirus , Infecções/prevenção & controle , Infecções/transmissão , Síndrome , Saúde , Nigéria
12.
Artigo em Inglês | AIM (África) | ID: afr-201902

RESUMO

The immune system is involved in the protection of host against environmental agents such as pathogenic micro-organisms (bacteria, fungi, and viruses) and chemicals, thereby preserving the integrity of the body. To preserve organism defense mechanisms, adequate nutritional status should be maintained with appropriate intakes of calories, vitamins, minerals and water that should be continuously provided by a healthy diet. The emergence of new infectious diseases with new pathogenic properties constitutes a serious health issue worldwide. Severe acute respiratory syndrome (SARS) represents one of the most recent emerging infectious diseases, caused by a novel coronavirus member called (SARS-CoV-2), identified in Wuhan, Hubei, China in December 2019, and recognized as pandemic by the World Health Organization (WHO). The nutritional status of each COVID-19-infected patient should be assessed prior undertaking treatments. Nutritional support should be the basis of management of any infected individual. However, prevention measures remain the first priority and strategy to develop throughout proper hygiene, healthy diet and staying home.


Assuntos
Infecções por Coronavirus , Síndrome , Vírus , Doença , Dieta , Ciências da Nutrição , Argélia
13.
Artigo em Inglês | AIM (África) | ID: afr-201912

RESUMO

Human coronaviruses, which hitherto were causative agents of mild respiratory diseases of man, have recently become one of the most important groups of pathogens of humans the world over. In less than two decades, three members of the group, severe acute respiratory syndrome (SARS) coronavirus (CoV), Middle East respiratory syndrome (MERS)-CoV, and SARS-COV-2, have emerged causing disease outbreaks that affected millions and claimed the lives of thousands of people. In 2017, another coronavirus, the swine acute diarrhea syndrome (SADS) coronavirus (SADS-CoV) emerged in animals killing over 24,000 piglets in China. Because of the medical and veterinary importance of coronaviruses, we carried out a review of available literature and summarized the current information on their properties and diversity. Coronaviruses are single-stranded RNA viruses with some unique characteristics such as the possession of a very large nucleic acid, high infidelity of the RNA-dependent polymerase, and high rate of mutation and recombination in the genome. They are susceptible to a number of physical agents and several chemical agents used for disinfection procedures in hospitals and laboratories. They exhibit considerable genetic and host diversity, causing diseases of gastrointestinal and respiratory system in a wide range of vertebrate hosts including humans. The high prevalence of coronaviruses in domestic and wild animals, especially bats and birds, and the propensity for their genomes to undergo mutation and recombination may lead to emergence of new coronaviruses that could pose a serious threat to human and animal health.


Assuntos
Infecções por Coronavirus , Síndrome Respiratória Aguda Grave , Vírus , Síndrome , Coronavirus , Coronavirus/análise , Coronavirus/classificação , Nigéria
14.
Pan African Medical Journal ; 35(118), NA, 2020
Artigo em Inglês | AIM (África) | ID: afr-201923

RESUMO

We are reporting a case of Acute Post-Infectious Flaccid paralysis also commonly known as Guillain-Barré Syndrome (GBS) in a patient with confirmed COVID-19 infection. GBS often occurs following an infectious trigger which induces autoimmune reaction causing damage to peripheral nerves. So far, only 8 cases have been described in association with COVID-19. This is the first to be described in Tanzaniain an African Child, and probably the first in the continent. This report is presented for clinicians to be aware and for the medical fraternity to look into this unusual presentation which may shed some more light on possible pathways of the pathogenesis and clinical manifestations. We recommend that the presentation of GBS with acute respiratory distress should warrant extra precaution and a testing for COVID-19 especially when the symptoms of COVID-19 are protean.


Assuntos
Infecções por Coronavirus , Síndrome , Síndrome , Adulto , Camarões
15.
Rev. Cient. CRO-RJ (Online) ; 4(2): 42-45, May-Aug. 2019.
Artigo em Inglês | LILACS (Américas), BBO | ID: biblio-1024856

RESUMO

Objective: The aim of this article was to describe a case of Robinow syndrome in a pediatric patient. Case Report: Clinically, the patient had frontal bossing, flat facial profile with macrocephaly, midfacial hypoplasia, hypertelorism, wide palpebral fissures, triangular mouth, short upturned nose, short philtrum, ankyloglossia, prolonged retention of primary teeth and abnormal aligment of teeth. The radiographic exams indicated the presence of three impacted permanent supernumerary teeth, agenesis of eight permanent teeth and dental root shortening of all permanent teeth. The treatment proposed was the extraction of all retained primary teeth and the supernumerary teeth, dietary and oral hygiene instructions and orthodontic treatment. Also, important aspects to avoid complications associated with Robinow syndrome were discussed. Conclusion: This case describes uncommon oral findings and some important aspects to avoid complications associated with the Robinow syndrome. Early professional advice, treatment, and periodical follow-ups can improve the quality of life of these patients.


Objetivo: O objetivo deste artigo foi descrever um caso de síndrome de Robinow em um paciente pediátrico. Relato de Caso: Clinicamente, o paciente apresentava bossas frontais, perfil facial plano com macrocefalia, hipoplasia da face média, hipertelorismo, fissuras palpebrais amplas, boca triangular, nariz curto, filtro curto, anquiloglossia, retenção prolongada de dentes decíduos e dentes desalinhados. Os exames radiográficos indicaram a presença de três elementos supranumerários permanentes impactados, agenesia de oito dentes permanentes e encurtamento radicular de todos os dentes permanentes. O tratamento proposto foi a extração de todos os dentes decíduos retidos e os elementos supranumerários, instruções de higiene bucal e dietética e tratamento ortodôntico. Além disso, aspectos importantes para evitar complicações associadas à síndrome de Robinow são discutidos. Conclusão: Este caso descreve achados orais incomuns e alguns aspectos importantes para evitar complicações associadas à síndrome de Robinow. Aconselhamento profissional precoce, tratamento e acompanhamento periódico podem melhorar a qualidade de vida desses pacientes.


Assuntos
Odontopediatria , Síndrome , Saúde Bucal , Assistência Odontológica
17.
Rev. odontol. Univ. Cid. São Paulo (Online) ; 31(1): 6--16, jan.2019. ilus.
Artigo em Inglês, Português | LILACS (Américas), BBO | ID: biblio-1009616

RESUMO

Foram avaliados o conhecimento e as condutas dos enfermeiros da Estratégia de Saúde da Família (ESF) perante a Síndrome Hipertensiva da Gravidez (SHG), no município de Guanambi - BA. Estudo descritivo quantitativo, desenvolvido com 25 enfermeiros que atuam ou atuaram na Estratégia de Saúde da família (ESF). Utilizou-se um questionário semiestruturado, autoaplicável, contendo 14 questões relacionadas à identificação do profissional, conduta e conhecimento sobre SHG. Dados foram analisados por meio de tabelas de distribuição de frequências. Houve predominância do gênero feminino (80,0%), 83,4% tinham mais de 4 anos de formação, 76,0% atuavam na ESF em média 3 anos e 84,0% têm especialização. Identificou-se no período de 12 meses que 08 gestantes apresentaram quadro de SHG, destas, 06 tiveram acompanhamento na atenção secundária e 02 permaneceram com atendimento na ESF. Sobre referência e contra-referência, 64% (16) afirmaram que todas as gestantes continuam as consultas de pré-natal na unidade, 12% (03) relataram que a maioria das gestantes continuam com atendimento na unidade e 06 (24%) afirmaram não continuar. Os enfermeiros apresentaram dificuldades em identificar as complicações e consequências para desenvolvimento de SHG em gestantes atendidas na Estratégia Saúde da Família, sendo a maior dificuldade relacionada ao encaminhamento.


Were evaluated the knowledge and behaviors of nurses of the Family Health Strategy (FHS) in relation to the Hypertensive Pregnancy Syndrome (HPS) in the municipality of Guanambi - BA. This is a quantitative descriptive study developed with 25 nurses who work or have worked in the Family Health Strategy (FHS). A semi-structured, self-administered questionnaire containing 14 questions related to the identification of the professional, conduct, knowledge. Data were analyzed by frequency distribution tables. There was a predominance of female gender (80.0%), 83.4% had more than 4 years of education, 76.0% had a 3-year FHS, and 84.0% had specialization. It was identified in the 12-month period that 08 pregnant women presented SHG, of these, 06 had follow-up in the secondary care and 02 remained with care in the FHS. Regarding reference and contra-referral, 64% (16) stated that all pregnant women continued prenatal visits at the unit, 12% (03) reported that most of the pregnant women still attended the unit and 06 (24%) said not continue. Nurses presented difficulties in identifying complications and consequences for the development of FHS in pregnant women attended in the Family Health Strategy, being the greatest difficulty related to referral.


Assuntos
Estratégia Saúde da Família , Gestantes , Síndrome
18.
Med. UIS ; 32(2): 59-65, mayo-ago. 2019. tab, graf
Artigo em Espanhol | LILACS (Américas) | ID: biblio-1114969

RESUMO

Resumen El síndrome 3M es un desorden autosómico recesivo, heterogéneo, poco común, llamado así por los tres investigadores que lo describieron por primera vez, Miller, Mckusck y Malvaux. Las características principales son retraso en el crecimiento prenatal y postnatal severo, dismorfias faciales y anomalías radiológicas. En sus manifestaciones estomatológicas presentan dolicocefalia, abombamiento frontal, cara triangular, labios gruesos, cejas pobladas, hipoplasia maxilar severa, facies melancólicas, retraso en la erupción dental severa y falta de crecimiento del macizo facial. El objetivo del artículo es la descripción de casos gemelares de 8 años y 6 meses de edad, que acuden a la Clínica de Atención Dental Avanzada de la Universidad de Monterrey, con confirmación del síndrome 3M por prueba sanguínea a los 4 años de edad por parte del Servicio de Genética del Hospital Universitario. Se realiza rehabilitación bucal de ambas niñas, y, posteriormente, son referidas a interconsulta con ortodoncia interceptiva. MÉD.UIS.2019;32(2): 59-65


Abstract 3M syndrome is very rare, it's a heterogeneous autosomal recessive disorder named after 3 researches who described it for the first time, Miller, Mckusck and Malvaux. Whose main characteristic are; delayed prenatal growth, severe postnatal growth, facial dysmorphia, radiological abnormalities, presence of dolichocephaly, frontal bulging, triangular face, thick lips, raised eyebrows, severe maxillary hypoplasia, melancholic facies, delayed severe dental eruption, lack of facial mass growth. The objective of the article is the description of twin cases that come to the Advanced Dental Care Clinic of the University of Monterrey; 8 years 6 months old, with confirmation of the 3M syndrome, with a blood test at 4 years of age by the Genetics Service of the University Hospital. MÉD.UIS.2019;32(2): 59-65


Assuntos
Humanos , Feminino , Criança , Síndrome , Nanismo , Ortodontia Interceptora , Erupção Dentária , Gêmeos , Mulheres , Assistência Odontológica , Facies , Sobrancelhas , Face , Genes , Genética , Crescimento , Testes Hematológicos , Lábio , Maxila , Reabilitação Bucal
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